System and methods for determining a woman's risk of aneuploid conception

Abstract

The present invention provides methods and systems for determining a woman's risk of carrying an aneuploid embryo based on the maternal genotype, maternal age and optionally paternal age.

What is claimed is: 
     
         1 . A method of determining a woman's susceptibility to conceive an aneuploid embryo, comprising determining the presence or absence of a polymorphic allele in a biological sample from said woman, with the polymorphic allele being in linkage disequilibrium with single nucleotide polymorphism rs2305957 and the polymorphic allele's presence indicating the woman's susceptibility to conceive an aneuploid embryo. 
     
     
         2 . The method according to  claim 1 , wherein the polymorphic allele comprises a single nucleotide polymorphism in linkage disequilibrium with single nucleotide polymorphism rs2305957. 
     
     
         3 . The method according to  claim 1 , wherein the polymorphic allele comprises an insertion or deletion polymorphism in linkage disequilibrium with single nucleotide polymorphism rs2305957. 
     
     
         4 . The method according to  claim 2 , wherein the single nucleotide polymorphism is rs2305957 or a genetic variant in linkage disequilibrium with rs2305957. 
     
     
         5 . The method according to  claim 1 , further comprising
 establishing a susceptibility profile by correlating the presence of said polymorphic allele with the woman's age and optionally with prospective father's age; and   comparing said profile to a library of profiles or a prediction model to provide an indication of a woman's susceptibility to conceive an aneuploid embryo,   wherein said comparing provides a determination of said   woman's susceptibility to conceive an aneuploid embryo.   
     
     
         6 . A kit for assessing a woman's susceptibility to conceive an aneuploid embryo, the kit comprising reagents for determining the presence or absence of a polymorphic allele in a biological sample from said woman, with the polymorphic allele being located on chromosome 4 and the polymorphic allele's presence indicating the woman's susceptibility to conceive an aneuploid embryo. 
     
     
         7 . The kit according to  claim 6 , wherein the polymorphic allele comprises a single nucleotide polymorphism or in linkage disequilibrium with single nucleotide polymorphism rs2305957. 
     
     
         8 . The kit according to  claim 6 , wherein the polymorphic allele comprises an insertion or deletion polymorphism in linkage disequilibrium with single nucleotide polymorphism rs2305957. 
     
     
         9 . The kit according to  claim 7 , wherein the single nucleotide polymorphism is rs2305957 or a genetic variant in linkage disequilibrium with rs2305957. 
     
     
         10 . The kit according to  claim 9 , further comprising probes that specifically bind to rs2305957. 
     
     
         11 . The kit according to  claim 6 , further comprising instructions to establish a susceptibility profile by correlating the presence of said polymorphic allele with the woman's age and optionally with prospective father's age; and
 instructions to compare said profile to a library of profiles known to provide an indication of a woman's susceptibility to conceive an aneuploid embryo,   wherein said comparing provides a determination of said woman's susceptibility to conceive an aneuploid embryo.   
     
     
         12 . A system for determining a woman's susceptibility to carry an aneuploid embryo comprising:
 a computing environment;   an input device, connected to the computing environment,   to receive data from a user, wherein the data received comprises items of information from a woman to provide a profile for said woman,   comprising information such as the woman's genotype including the presence or absence of a polymorphic allele, the woman's age and, optionally, prospective father's age,   an output device, connected to the computing environment,   to provide information to the user; and   a computer readable storage medium having stored thereon at least one algorithm to provide for comparing the woman's profile to a library of profiles known to provide an indication of a woman's susceptibility to carry an aneuploid embryo,   wherein the system provides results that can be used for determining a woman's susceptibility to carry an aneuploid embryo.